Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glutamate decarboxylase 1
Synonyms:
GAD25,  Gad-1,  EP10,  GAD67,  GAD44,  Z49976

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gad1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gad1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Long philtrum, Neo... OMIM:619124

The table below shows human diseases predicted to be associated to Gad1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Perching Syndrome
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia OMIM:617055
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Uvula, Bifid
Bifid uvula OMIM:192100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intes... OMIM:251850
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... ORPHA:103909
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting ORPHA:313906
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Chronic Hiccup
Malnutrition, Dehydration, Abnormal eating behavior ORPHA:396
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Atypical scarring of skin, Gingival fragility, Periodontitis, Gingival bleeding,... OMIM:617174
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... ORPHA:137935
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... ORPHA:103907
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Accessory oral frenulum ORPHA:1373
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Pierre Robin Syndrome
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... OMIM:261800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... ORPHA:330012
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... OMIM:618011
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia OMIM:616025
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... OMIM:620045
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... ORPHA:1302
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... ORPHA:2004
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties OMIM:616341
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting, Dehydration OMIM:610370
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... ORPHA:2902
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Gingival bleeding OMIM:606893
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... OMIM:619445
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention, Elevated circulating alkaline phosphatase concentration OMIM:174050
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2901
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties OMIM:610992
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... OMIM:616974
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, Umbilical hernia, Downturned corners of mouth, High, narrow palate OMIM:273390
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Ch... OMIM:620233
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Adiposis Dolorosa
Abdominal distention, Constipation, Painful subcutaneous lipomas OMIM:103200
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Increased circulating lactate dehydrog... ORPHA:254361
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Muscular Hypertonia, Lethal
Umbilical hernia OMIM:254120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Urticaria, Polydipsia ORPHA:47045
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... OMIM:605809
Isolated Pierre Robin Syndrome
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate ORPHA:718
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Feeding difficulties, High palate, Neonatal ... OMIM:300219
Thyroid Hemiagenesis
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95719
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia OMIM:617732
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... OMIM:614669
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Feedi... ORPHA:137914
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Polydipsia ORPHA:178029
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Decreased liver function, Dehydration OMIM:602199
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... OMIM:606824
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating enzyme concentration or activity, Restlessness, Abdominal pain, Abnormal ery... ORPHA:100924
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... ORPHA:95427
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... OMIM:620321
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Enteric Anendocrinosis
Diarrhea, Vomiting, Dehydration, Malabsorption ORPHA:83620
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Macroglossia OMIM:275100
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... ORPHA:79127
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi... OMIM:612292
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... OMIM:614608
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Prod... ORPHA:454836
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Dysphagia, Cough, Abnormal pattern of res... ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... ORPHA:238329
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia OMIM:274400
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Neonatal respirato... OMIM:615042
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... ORPHA:2257
Inflammatory Skin And Bowel Disease, Neonatal, 2
Secretory diarrhea, Vomiting, Polyhydramnios, Dehydration OMIM:616069
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p... OMIM:613544
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... ORPHA:226313
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth OMIM:246560
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hypoglossia With Situs Inversus
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... OMIM:612776
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... ORPHA:411703
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... OMIM:619611
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... ORPHA:254864
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... OMIM:615834
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, E... ORPHA:79457
Letterer-Siwe Disease
Abdominal distention, Jaundice, Dyspnea, Pulmonary infiltrates, Stomatitis OMIM:246400
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... ORPHA:2414
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... OMIM:613662
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... OMIM:600325
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis, Tented upper lip vermilion, Tracheomalacia ORPHA:896
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Arthrogryposis mult... OMIM:201550
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Combined Oxidative Phosphorylation Deficiency 47
Long philtrum, Dehydration, Dysphagia OMIM:618958
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi... OMIM:613490
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Open mouth, Short philtrum, Abnormal oral cavity morphology ORPHA:1516
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... ORPHA:199241
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Umbilical hernia ORPHA:2349
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Dehydration, Nasogastric tube feeding ORPHA:289504
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate OMIM:217150
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Wide mo... ORPHA:137834
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Abdomin... ORPHA:100085
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, ... OMIM:608104
Reticular Dysgenesis
Diarrhea, Dehydration, Malabsorption ORPHA:33355
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Dehydration, Death in childhood, Thin ver... OMIM:214150
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow palate, Plantar... ORPHA:2872
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Adams-Oliver Syndrome 4
Umbilical hernia OMIM:615297
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Anorexia, Abdominal pain, Dehydration, Feeding difficulties ORPHA:79312
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, High, narrow palate ORPHA:2181
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... ORPHA:915
Restrictive Dermopathy 2
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas... OMIM:619793
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrop... ORPHA:298
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Nar... ORPHA:352490
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Malignant Peritoneal Mesothelioma
Dyspnea, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Dehydration ORPHA:28
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy OMIM:277300
Congenital Disorder Of Glycosylation, Type Iy
Wide mouth, Widely spaced teeth, Respiratory distress, Feeding difficulties OMIM:300934
Qazi-Markouizos Syndrome
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... ORPHA:3010
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... ORPHA:100050
Nipah Virus Disease
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough ORPHA:99825
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydrogenase ... ORPHA:319213
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Short lingual frenulum, Dental crowding, Aggressive behavior... ORPHA:293939
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Autosomal Agammaglobulinemia
Sinusitis, Malabsorption, Diarrhea, Dehydration, High palate ORPHA:33110
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... ORPHA:254875
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Chronic constipation OMIM:300676
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting ORPHA:464453
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Feeding difficulties in i... OMIM:613070
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis ORPHA:2476
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo... ORPHA:2290
Ovarian Fibroma
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain ORPHA:314473
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Achondrogenesis
Umbilical hernia, Inguinal hernia, Long philtrum ORPHA:932
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... ORPHA:90051
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea OMIM:240200
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Dehydration, Vomiting ORPHA:35710
Breath-Holding Spells
Cyanosis OMIM:607578
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly OMIM:618786
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:333
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... ORPHA:142
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, High palate ORPHA:1035
Folinic Acid-Responsive Seizures
Respiratory distress, Abdominal distention, Apnea ORPHA:79097
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Diarrhea, Feeding difficulties, Aminoaciduria, Vomiting OMIM:612075
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck OMIM:300580
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood OMIM:560000
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... ORPHA:85443
Lujan-Fryns Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... ORPHA:776
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Vomiting, Aggressive behavior OMIM:237310
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Elevated circulating aspartate aminotransferase concentration, ... OMIM:257200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Respiratory dist... OMIM:613561
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Inguinal hernia ORPHA:2196
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Dehydration OMIM:264350
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Solar Urticaria
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... ORPHA:97230
Rin2 Syndrome
Irregular dentition, Gingival overgrowth, Abnormal lip morphology, High palate, Long philtrum, Um... ORPHA:217335
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress ORPHA:2140
Achondrogenesis Type 1B
Umbilical hernia, Femoral hernia, Long philtrum ORPHA:93298
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Tented upper lip vermilion, Diastasis recti, High palate, Short philtru... OMIM:616579
Congenital Heart Block
Cyanosis, Feeding difficulties in infancy, Pericardial effusion, Hydrops fetalis, Peripheral edem... ORPHA:60041
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern... OMIM:612938
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... ORPHA:75233
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Abnormal circulating enzyme concentration or activity, Orthopnea, Bowel inc... ORPHA:365
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula, Midline central nervous system lipomas OMIM:155145
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... ORPHA:60033
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Atrophic... OMIM:130080
Achondrogenesis Type 1A
Umbilical hernia, Femoral hernia, Long philtrum ORPHA:93299
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate, Aggressive behavior ORPHA:85279
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Shigellosis
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... ORPHA:810
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia, Feedin... OMIM:616733
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate, Cleft upper lip OMIM:613885
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdomin... OMIM:618528
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Intellectual Developmental Disorder, Autosomal Dominant 43
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... OMIM:616977
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Cleft palate ORPHA:1770
Mirizzi Syndrome
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... ORPHA:521219
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... OMIM:618529
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Death in infancy, Hypertyrosinemia, Abdomina... OMIM:617156
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Anal stenosis, Short philtrum, Everted lower lip vermilion, Hypodontia, Microdon... OMIM:601499
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Cystinosis
Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi... ORPHA:258
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr... OMIM:278000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Dehydration, Feeding difficulties OMIM:177735
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, Widely spaced teeth, High palate, Umbilical hernia, Enamel hypoplasia OMIM:618205
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Inguinal hernia, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Malaria
Nausea and vomiting, Respiratory distress ORPHA:673
Thyroid Hypoplasia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95720
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... OMIM:620278
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... ORPHA:133
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morphology, Narrow m... ORPHA:2496
Pelger-Huet Anomaly
Umbilical hernia, Abnormality of the dentition, Median cleft palate, Gingival overgrowth OMIM:169400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... OMIM:618426
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Harlequin Ichthyosis
Eclabion, Self-injurious behavior, Dehydration ORPHA:457
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre... OMIM:211530
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Dehydration OMIM:602722
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal dist... ORPHA:2131
Isovaleric Acidemia
Vomiting, Dehydration OMIM:243500
Hypercalcemia, Infantile, 1
Vomiting, Dehydration OMIM:143880
Corticosterone Methyloxidase Type I Deficiency
Feeding difficulties in infancy, Vomiting, Dehydration OMIM:203400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... ORPHA:90003
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Luo-Schoch-Yamamoto Syndrome
Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar... OMIM:619460
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia OMIM:304800
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:95717
Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Flexion contracture ORPHA:87876
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis OMIM:601492
Intestinal Botulism
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... ORPHA:178481
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Downturned corners of mouth, Arthrogryposis-like hand anomaly, Macroglossia, Wide mouth, High pal... ORPHA:369891
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Elevated gamma-gl... ORPHA:100086
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2143
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, High palate, Recurrent acute respiratory tract inf... OMIM:620011
Encephalopathy, Ethylmalonic
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae OMIM:602473
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Abdominal distention ORPHA:369
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... ORPHA:330015
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Inguinal hernia, Pursed lips, Elbow flexion contracture, Knee flexion contractur... OMIM:616266
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:615595
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia OMIM:617662
Houge-Janssens Syndrome 3
Umbilical hernia, Inguinal hernia, High palate, Short philtrum OMIM:618354
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respirat... OMIM:269860
Opitz Gbbb Syndrome
Anal atresia, Inguinal hernia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ... OMIM:300000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... ORPHA:927
Schisis Association
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Tracheoes... ORPHA:63862
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... ORPHA:3426
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Alv... OMIM:235255
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... OMIM:616638
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia ORPHA:93950
Zygomycosis
Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col... ORPHA:73263
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux, Apnea ORPHA:1949
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, High palate, Congenital diaphragmatic hernia ORPHA:284180
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um... ORPHA:2963
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Feeding difficulties ORPHA:26792
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse, Recurrent pneum... OMIM:613177
Propionic Acidemia
Poor appetite, Feeding difficulties in infancy, Dehydration, Constipation, Vomiting OMIM:606054
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ... ORPHA:308552
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Dehydration OMIM:212140
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Thin vermilion border, Long philtrum ORPHA:171839
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Dehydration OMIM:251120
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognathia, Cyanotic epis... ORPHA:284417
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... ORPHA:90060
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... ORPHA:343
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... ORPHA:3260
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors OMIM:618737
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... ORPHA:330021
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Micrognathia, Jaundice, Dehydration, Oligohydramnios OMIM:208085
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Cirrhosis, Familial
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... OMIM:215600
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties OMIM:620203
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... OMIM:230900
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Cleft pal... ORPHA:2311
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Hereditary Hyperekplexia
Umbilical hernia, Esophagitis, Hernia, Hiatus hernia ORPHA:3197
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Deep philtrum, High ... OMIM:255800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia OMIM:619769
Beta-Ketothiolase Deficiency
Anorexia, Edema, Diarrhea, Dehydration, Vomiting, Agitation, Oral aversion ORPHA:134
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Dyspnea, Feeding difficulties, Wide mouth, Abnormal up... ORPHA:2707
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Umb... ORPHA:329224
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... OMIM:620275
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas... ORPHA:538
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult... ORPHA:79113
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties OMIM:619239
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Increased circulat... ORPHA:93552
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Achondrogenesis, Type Ii
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant ... OMIM:200610
Intellectual Disability, Buenos-Aires Type
Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia ORPHA:3079
Acute Intermittent Porphyria
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Restlessness, Abdomin... ORPHA:79276
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... OMIM:136760
Auriculocondylar Syndrome
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... ORPHA:137888
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... ORPHA:3392
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi... OMIM:105830
Chiari Malformation Type Ii
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia OMIM:207950
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Inguinal hernia, Cleft palate, Long philtrum ORPHA:2505
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia OMIM:618272
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Restlessness, Cyanosis, Gastrointestinal d... ORPHA:391428
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo... ORPHA:98915
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure OMIM:261680
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Aminoaciduria, Perio... ORPHA:534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c... ORPHA:254528
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... ORPHA:2038
Cantu Syndrome
Thick lower lip vermilion, Gingival overgrowth, Long philtrum, Umbilical hernia, Thick upper lip ... OMIM:239850
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Dehydration ORPHA:27
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Elevated circulating aspartate aminotransferase concentratio... OMIM:227810
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... OMIM:619580
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum ORPHA:261295
Congenital Fibrinogen Deficiency
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... ORPHA:335
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Feeding difficulties OMIM:143860
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung ORPHA:83469
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal distention, Jaundic... ORPHA:469
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin vermilion border, Short philtrum, Feeding difficulties ORPHA:261304
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Polyhydramnios, Micrognathia, Nasogastric tube feeding in infancy, Gastroesoph... ORPHA:93316
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Thin vermilion border, Umbil... OMIM:615879
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted... ORPHA:85321
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd... OMIM:617102
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand OMIM:175700
Agnathia-Otocephaly Complex
Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomalacia,... OMIM:202650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti ORPHA:254534
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio... OMIM:557000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... OMIM:106260
Cholera
Miscarriage, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Abdominal cramps, Vomiting, Pal... ORPHA:173
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Feeding d... OMIM:620157
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness OMIM:300266
Early-Onset Familial Hypoaldosteronism
Vomiting, Dehydration, Feeding difficulties ORPHA:556030
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea... ORPHA:210136
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary... ORPHA:183
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Recurrent respirat... ORPHA:329178
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Dend Syndrome
Downturned corners of mouth, Vomiting, Dehydration, Long philtrum ORPHA:79134
Meckel Syndrome 14
Microretrognathia, Cyanosis, Micrognathia, Abdominal distention, Increased nuchal translucency, P... OMIM:619879
Hydrolethalus
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilater... ORPHA:2189
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Feeding diffi... OMIM:619383
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Pulmonary hypoplasia, Cleft palate ORPHA:85166
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious teeth, Velopha... OMIM:129400
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Feeding difficulties OMIM:615597
Distal Deletion 19P
Vaginal hernia, Cleft palate, Umbilical hernia, Short philtrum, Keloids ORPHA:96129
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema OMIM:617300
Familial Visceral Myopathy
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2604
Nager Syndrome
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... ORPHA:245
Velocardiofacial Syndrome
Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence... OMIM:192430
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Lamellar Ichthyosis
Everted lower lip vermilion, Dehydration, Abnormality of the dentition ORPHA:313
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla... OMIM:309520
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... ORPHA:1876
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Generalized aminoaciduria, Vomiting, Pulmonary hypoplasia, Neonat... OMIM:231680
Chylomicron Retention Disease
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabso... ORPHA:71
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, High palate, Micrognathia ORPHA:3304
Buerger Disease
Acrocyanosis ORPHA:36258
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... ORPHA:537
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m... ORPHA:192
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:348
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Tachypnea, Respiratory distress ORPHA:45452
Vipoma
Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr... ORPHA:97282
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Polyhydramnios, Dehydration OMIM:214700
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Feeding difficulties in... ORPHA:314655
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Atrophic scars,... OMIM:225410
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... ORPHA:1307
Nephrotic Syndrome, Type 1
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention OMIM:256300
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Micrognathia, Trismus, Dehydration, Feeding difficulties, Tube feeding OMIM:616271
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Dysphagia, Everted lower lip vermilion,... OMIM:608013
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, High, narrow palate, Telangiectasia, Smooth ... OMIM:608799
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... ORPHA:275761
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Increased... ORPHA:370348
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Icf Syndrome
Macroglossia, Umbilical hernia, Malabsorption, Protruding tongue ORPHA:2268
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Atypical scarring of skin, Atrophic scars, High palate, Cellulit... OMIM:618000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Carious teeth, Atelectasis, Respir... ORPHA:536467
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Poor suck ORPHA:1145
Amish Lethal Microcephaly
Death in infancy, Feeding difficulties, Cleft soft palate, Micrognathia ORPHA:99742
Amme Complex
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Diastasis recti OMIM:300194
Bronchial Neuroendocrine Tumor
Pneumonia, Poor appetite, Anorexia, Bowel urgency, Nonproductive cough, Dyspnea, Asthma, Wheezing... ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... OMIM:604377
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting ORPHA:677
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency